(Q43725303)

26 November 2017

Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis (English)

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26 November 2017

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8

Victoria Pratt

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26 November 2017

1

Charles M Strom

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26 November 2017

Beryl Crossley

2

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26 November 2017

Arlene Buller-Buerkle

3

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26 November 2017

Michael Jarvis

4

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26 November 2017

Franklin Quan

5

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26 November 2017

Mei Peng

6

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26 November 2017

Kasinathan Muralidharan

7

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26 November 2017

Joy B Redman

9

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26 November 2017

Weimin Sun

10

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26 November 2017

language of work or name

English

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publication date

1 February 2011

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26 November 2017

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26 November 2017

13

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26 November 2017

166-172

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26 November 2017

2

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181fa24c4

26 November 2017

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cites work

Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Sweat testing infants detected by cystic fibrosis newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Standards and guidelines for CFTR mutation testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Update on gene modifiers in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

The Cystic Fibrosis mutation "arms race": when less is more

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Independent Contribution of Common CFTR Variants to Chronic Pancreatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181FA24C4

10.1097/GIM.0B013E3181FA24C4

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

26 November 2017

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